Genotype and functional correlates of disease phenotype in deficiency of adenosine deaminase 2 (DADA2) - ScienceDirect
From Function to Phenotype: Impaired DNA Binding and Clustering Correlates with Clinical Severity in Males with Missense Mutations in MECP2
PDF) Further corroboration of distinct functional features in SCN2A variants causing intellectual disability or epileptic phenotypes
IJMS, Free Full-Text
Identification and validation of clinical phenotypes with prognostic implications in patients admitted to hospital with COVID-19: a multicentre cohort study - The Lancet Infectious Diseases
Frontiers Dysregulated autoantibodies targeting vaso- and immunoregulatory receptors in Post COVID Syndrome correlate with symptom severity
Epidermolysis bullosa is a heterogeneous group of rare genetic disorders characterized by mucocutaneous fragility and blister formation after minor friction or trauma. There are four major epidermolysis bullosa types based on the ultrastructural level of tissue cleavage: simplex, junctional, dystrophic, and Kindler epidermolysis bullosa. They are caused by mutations in genes that encode the proteins that are part of the hemidesmosomes and focal adhesion complex. Some of these disorders can be associated with extracutaneous manifestations, which are sometimes fatal. They are inherited in an autosomal recessive or autosomal dominant manner. This review is focused on the phenomena of heterogeneity (locus, allelic, mutational, and clinical) in epidermolysis bullosa, and on the correlation genotype–phenotype.
Diagnostics, Free Full-Text
The autism spectrum disorder phenotype in children with tuberous sclerosis complex: A systematic review and meta‐analysis - Mitchell - 2022 - Developmental Medicine & Child Neurology - Wiley Online Library
Dopaminergic pathways and resting-state functional connectivity in Parkinson's disease with freezing of gait - ScienceDirect
Transdiagnostic investigation into the relationship between mirror neuron system activity, echo-phenomena, and theory of mind in major psychoses - ScienceDirect
Distinct type I collagen alterations cause intrinsic lung and respiratory defects of variable severity in mouse models of osteogenesis imperfecta - Dimori - 2023 - The Journal of Physiology - Wiley Online Library